718914002: X-linked intellectual disability Van Esch type (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability Van Esch type

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability Van Esch type
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability Van Esch type
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability Van Esch type
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability Van Esch type

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability Van Esch type
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Van Esch type
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Van Esch type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\X-linked intellectual disability Van Esch type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Van Esch type
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Van Esch type
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\X-linked intellectual disability Van Esch type
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\X-linked intellectual disability Van Esch type
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability Van Esch type
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability Van Esch type
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability Van Esch type
\Disease\Congenital disease\X-linked intellectual disability Van Esch type
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Van Esch type
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Van Esch type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3314402011 X-linked intellectual disability Van Esch type (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3314403018 X-linked intellectual disability Van Esch type en Synonym Active Case sensitive SNOMED CT core

3314404012 X-linked intellectual deficit Van Esch type has characteristics of mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. It has been described in seven males from a family of Belgian origin. The syndrome is transmitted in an X-linked recessive manner and mapped to the Xp22.1-p21.3 region of the X-chromosome. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability Van Esch type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
X-linked intellectual disability Van Esch type	Is a	Congenital disease	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type	Interprets	Intellectual ability	true	Inferred relationship	Some	3
X-linked intellectual disability Van Esch type	Has interpretation	Impaired	true	Inferred relationship	Some	3
X-linked intellectual disability Van Esch type	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
X-linked intellectual disability Van Esch type	Has interpretation	Impaired	true	Inferred relationship	Some	4
X-linked intellectual disability Van Esch type	Is a	Intellectual disability	false	Inferred relationship	Some
X-linked intellectual disability Van Esch type	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability Van Esch type	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type	Is a	Primary hypogonadism	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
X-linked intellectual disability Van Esch type	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability Van Esch type	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
X-linked intellectual disability Van Esch type	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314402011	X-linked intellectual disability Van Esch type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314403018	X-linked intellectual disability Van Esch type	en	Synonym	Active	Case sensitive	SNOMED CT core
3314404012	X-linked intellectual deficit Van Esch type has characteristics of mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. It has been described in seven males from a family of Belgian origin. The syndrome is transmitted in an X-linked recessive manner and mapped to the Xp22.1-p21.3 region of the X-chromosome.	en	Definition	Active	Case sensitive	SNOMED CT core